1;Department of Otolaryngology, Inje University, College of Medicine, Sanggye Paik Hospital, Seoul, 2;Department of Medical Genetics, Hanyang University School of Medicine, Seoul, Korea

두경부 암에서 p53 종양 억제 유전인자의 변이

김갑무1 · 우훈영1 · 조율희2 · 김봉윤2

인제대학교 의과대학 상계백병원 이비인후과교실1;한양대학교 의과대학 유전학교실2;

ABSTRACT

The mutations of the p53 tumor suppressor gene is one of the most common genetic abnormalities in human cancers. To establish the laboratory procedures for the detection of p53 mutation, we employed PCR-SSCP(polymerase chain reaction-signle strand conformation polymorphism) and direct sequencing methods. PCRs were performed for the highly conserved regions of p53 gene with 4 sets of 32P-labelled primers, encompassing exon 4, exons 5 and 6, exon 7, and exons 8 and 9. SSCP analysis was performed with polyacrylamide gel containing 5% glycerol at room temperature or gel without glycerol. Preliminarily nine head and neck cancer tissues from 8 patients were analyzed. Two samples showed mobility shifts in SSCP analysis for exons 5 and 6. Mobility shifts were further characterized with direct sequencing of allelespecific PCR products. One was G to A transition of the third base of codon 146 resulting in TGG(tryptophan) to TGA nonsense mutation. And the other was G to T transversion of the second base of codon 154 resulting in GGC(glycine) to GTC(valine) missense mutation.